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Sporadic corticobasal syndrome due to FTLD-TDP

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Abstract

Sporadic corticobasal syndrome (CBS) has been associated with diverse pathological substrates, but frontotemporal lobar degeneration with TDP-43 immunoreactive inclusions (FTLD-TDP) has only been linked to CBS among progranulin mutation carriers. We report the clinical, neuropsychological, imaging, genetic, and neuropathological features of GS, a patient with sporadic corticobasal syndrome. Genetic testing revealed no mutations in the microtubule associated protein tau or progranulin (PGRN) genes, but GS proved homozygous for the T allele of the rs5848 PGRN variant. Autopsy showed ubiquitin and TDP-43 pathology most similar to a pattern previously associated with PGRN mutation carriers. These findings confirm that FTLD-TDP should be included in the pathological differential diagnosis for sporadic CBS.

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Acknowledgments

We thank Giovanni Coppola for assistance with the progranulin mRNA analysis. This study was supported by National Institute on Aging (NIA, grants P01 AG19724-01A1, P50 AG1657303-75271).

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Authors and Affiliations

  1. Memory and Aging Center, University of California, 1207, 350 Parnassus Ave., Ste 905, San Francisco, CA, 94143-1207, USA

    Maria Carmela Tartaglia, Manu Sidhu, Victor Laluz, Caroline Racine, Gil D. Rabinovici, Kelly Creighton, Anna Karydas, Bruce L. Miller & William W. Seeley

  2. Department of Neurology, University of California, San Francisco, USA

    Maria Carmela Tartaglia, Manu Sidhu, Victor Laluz, Caroline Racine, Gil D. Rabinovici, Kelly Creighton, Anna Karydas, Bruce L. Miller & William W. Seeley

  3. Department of Pathology, University of California, San Francisco, USA

    Eric J. Huang & Stephen J. DeArmond

  4. Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA

    Rosa Rademakers

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  1. Maria Carmela Tartaglia
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  2. Manu Sidhu
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Correspondence to William W. Seeley.

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Tartaglia, M.C., Sidhu, M., Laluz, V. et al. Sporadic corticobasal syndrome due to FTLD-TDP. Acta Neuropathol 119, 365–374 (2010). https://doi.org/10.1007/s00401-009-0605-1

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  • DOI: https://doi.org/10.1007/s00401-009-0605-1

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